To order a test please contact:

Asclepion Genetics

Chemin de l'Ochetaz 9, St. Suplice,
CH-1025, Switzerland
Email: asclepion@asclepion.net
Tel: +41 78 68 92 075
Fax: +41 21 69 10 470

Who is eligible for a Genetic test?

•  People who have a birth defect or genetic condition;

•  Parents who have had a child with a birth defect or genetic condition;

•  Parents who have a child with developmental delay, mental retardation or other problems with growth and    development.

•  Women who have had 3 or more miscarriages or infertility from an unknown cause;

•  Pregnant women our couples considering having children in which:
   The mother will be 35 years or older at the time of delivery
   The members of the couple are blood relatives (second cousins or closer)
   Testing during the pregnancy has indicated that the baby may have a birth defect or genetic condition
   There is a family history of birth defects, mental retardation, or genetic disease;

•  People who are concerned that they may have inherited a tendency to develop cancer;

•  People who are concerned that may have inherited a tendency to develop a neurologic condition such as Huntington     Disease (Huntington's Chorea);

•  A person whose doctor or health care provider has recommended a genetic evaluation or genetic testing.

:: The Cost of Genetic Testing ::

The cost of a genetic test varies dramatically, ranging from about €150 to upwards of €2,000. The difference stems largely from the variation in labor intensity of different tests. Some tests look for a limited number of mutations (sometimes only one) known to cause a disease; others require sequencing of the entire gene. It's the difference between looking at a few particular frames of a film for defects and examining the entire reel.

The explosion of genetic research now taking place is expected to bring prices down and dramatically increase the number of tests available. In the coming years, tests may be available to predict your genetic risk of developing heart disease or diabetes, for example, and will help you and your health care professional develop specific strategies for prevention. Preventive efforts can include changing your lifestyle or perhaps taking certain medications, which may be tailored to your specific genetic profile, and early screening to head off the worst complications should you develop the disease.

Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test. Genetic testing is often done as part of a genetic consultation.

Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. The laboratory reports the test results in writing to a person's doctor or genetic counselor.

Newborn screening tests are done on a small blood sample, which is taken by pricking the baby's heel. Unlike other types of genetic testing, a parent will usually only receive the result if it is positive. If the test result is positive, additional testing is needed to determine whether the baby has a genetic disorder.

Before a person has a genetic test, it is important that he or she understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission is called informed consent.

Genetics laboratory personnel have two major roles: processing patient samples (technologists), and interfacing with referring clinicians regarding their patients (clinical consultants). Lab personnel, who are usually certified in their specialty, may include lab directors, supervisors, technologists, and genetic counselors.

Compatibility: The test offered by the laboratory must match the specific clinical need

Geographical Location:

Our services are normally accessible by anybody in the world but logistics may be very variable according to the geographic location of the customer.

Samples shipped to Switzerland may go through Customs, which requires that hazard identification and a statement of value accompany the sample.

Language barriers and time zones can also be an issue.

Turn-Around Time: Time from sample receipt to test result report may vary:

Turn-around times depend on the tests to be performed.

A shorter turn-around time is advantageous only when it can be determined that quality control and thoroughness are not compromised.

Test results for pregnancy management (prenatal diagnosis) are considered urgent due to restrictions on options late in pregnancy. Pregnancy dating should be included with all prenatal samples.

The laboratory should be notified in advance of any sample that is "stat" (rush), as the sample processing may be different.

Cost: May vary from less than €150 to more than €2000 based on several factors

Testing methodology : Low complexity tests ( e.g., single gene mutation) are less expensive than high complexity tests ( e.g., full gene sequencing)

Number of individuals to be tested : Several family members may need to be tested to obtain a meaningful test result.

Additional services : Genetic consultation or counseling is usually recommended and sometimes required before genetic testing is performed. These fees should be considered in the total cost.

If genetic testing is clinically available and useful for a particular patient, the patient needs to understand why it is being offered and its implications for medical management and psychosocial well-being. If a competent patient (or parent/guardian) agrees to the proposed genetic test after full disclosure, this constitutes informed consent. Informed consent may be verbal or written. Some laboratories require written documentation of informed consent.

The medical doctor of the patient will be responsible to provide the patient with all of the information needed about the need for a genetic testing.

Pretest counseling may include::

•  Assessing the patient's risk perception, expectations and support systems.

•  Explaining the implications of testing vs. not testing for medical management and reproductive options.

•  Describing the methods used to obtain specimens and associated risks.

•  Reviewing test accuracy (sensitivity and specificity).

•  Estimating the chance that the test will be positive based on available information ( e.g., family history, clinical     symptoms).

•  Discussing any out-of-pocket costs to the patient.

•  Establishing a plan for conveying test results. Depending on the circumstances, results may be given:

•  in person

•  by phone, with or without a follow-up appointment

•  by mail (negative results only)

•  only when positive ( e.g., newborn screening)

•  Results should be revealed only to the individual tested, or his/her parent or guardian, unless explicit permission has    been granted to share results.

Additional issues relevant in some testing situations:

•  Need to clarify biological relationships (parentage, zygosity) for linkage studies.

•  Potential discrimination in employment, insurability or educational opportunities, especially in predictive testing.

•  Contact Asclepion Genetics directly at orderingsclepion.net to ask the following questions:

What are the sample requirements?

•  Are samples from other family members needed? Yes if there is a family history with the specific contition to be     tested.

•  What specimen type is needed? This will depend on the test.

•  Does the specimen need to be cultured before shipping? This will depend on the test.

•  What is the requested amount of specimen? This will depend on the test.

•  Will less be accepted in hard-to-draw situations? No

•  If the amount of the speciment is not enough for the test ? The physisian will be fully responsible for the cost to     recolect a new specimen of an adequate amount for the test.

What supporting documentation is needed?

•  Order form

•  Clinical history form

•  Information about test results on family members, if any, will be needed.

•  Family history needed for test interpretation? A pedigree is an efficient way to show family relationships. (See     Sample Pedigree for Laboratory Documentation.

•  If crossing international borders, are hazard labels and customs paperwork included? Depends on the policy of the     country of the ordering party

How should the sample be transported?

•  What is the correct delivery address? Asclepion Genetics address as this at the page : Contact.

•  When is delivery accepted? Only if the order for the test has been accepted with a written confirmation by Asclepion    Genetics and the material (DNA) receive has arrived intact, no hazardous material is included and the quantity     received is adequate for the test requested.

•  Should the sample be frozen, refrigerated or at room temperature during shipping? In all of the cases the material    will be DNA. This material can be transported at Room Temperature.

•  Is there a courier, mail or overnight shipping required? Normal mailing is adequate for DNA transportation.

Test Result Interpretation and Follow-Up

Test results are provided in writing by the laboratory to the referring clinician. The results may include:

Raw data
linical interpretation of test result
Sensitivity and specificity information
References
See Sample of an Asclepion Genetics Report.

The clinician explains the meaning of the test result to the patient and to other family members as needed. Test results and follow-up should be documented in the medical record and a copy made available to the patient. For many conditions, educational materials may be available from patient support organizations.

Parent support & information:

Depending upon the purpose the test and the disease under consideration, different tissue types may be requested for the test sample, including:

•  Amniocytes

•  Amniotic fluid

•  Fetal blood

•  Serum

•  White blood cell prep

•  Whole blood

•  Chorionic villi

•  Cystic hygroma fluid

•  Fibroblasts

•  Tissue from a specific organ

•  Urine

•  Paraffin block

•  Cheek swab

Blood Sample

The majority of genetic tests are performed on a blood sample obtained by a needle inserted into a vein (venipuncture). This procedure usually involves minor discomfort and risk of infection. Only a small amount, typically 10-22 cc for an adult, is required.

Newborn Heel Stick

Newborn screening tests are generally performed on blood absorbed onto a filter paper from the baby's heel.

Buccal Swab

DNA for testing can be derived from cells on the inside of the mouth. A small brush is used to scrape the inside of the cheek and then put in a sterile container for shipment. Some labs have kits for sample collection.

Skin Biopsy

It is sometimes necessary to test a skin sample. Usually a local anesthetic is given and a circular blade is used to take a small piece of skin (often from the upper arm, but location varies). Antibiotic ointment and a bandaid may be all that is required; rarely a stitch or two is taken. The wound must be kept free of infection and a small scar may result.

Organ Biopsy

If surgery is being performed on a patient who requires genetic testing, an organ sample may be adequate for some genetic tests.

Archived Pathological Specimens ( e.g., paraffin blocks, old Guthrie Cards)

If an individual needs genetic test information from family members who have died, a laboratory may be able to use old surgical specimens, newborn filter papers, or other older specimens to get a result.

Prenatal Samples

There are multiple prenatal diagnostic procedures that yield test samples. All of these procedures present some risk to the mother and fetus.

:: Ordering Procedure ::

During the term of the non-exclusive sales agreement between the Ordering Party and Asclepion Genetics, the Ordering Party agrees to fully comply with the operational plan of the ordering procedure as this is presented here:

1.  Ordering Party shall be held responsible for sample collection in a manner that will ensure the best DNA quality and      sufficient quantity for the testing (costs for sample collection and transportation will be fully covered by the Ordering      Party).

2.  Asclepion Genetics will be held responsible for providing the Ordering Party with a contact in a DNA preparation      facility, which will prepare the DNA. The DNA preparation cost will be fully covered by the Ordering Party

3.  Ordering Party shall be held responsible for shipping DNA sample to Asclepion Genetics in a manner appropriate to      secure the integrity of the sample (costs fully covered by the Ordering Party).

4.  Prior to DNA sample preparation, Ordering Party shall FAX a sample submission form to Asclepion Genetics (as this      is provided by Asclepion Genetics ).

5.  Asclepion Genetics shall respond (by FAX) to the Ordering Party to confirm the acceptance of the test the soonest      possible. The invoice for the test shall be sent to the Ordering Party by Asclepio n Genetics at the same time.

6.  The Ordering Party shall prepare (and ship to Asclepion Genetics or Asclepion Genetics collaborators) the sample      immediately after the Ordering Party receives the test acceptance confirmation by Asclepion Genetics .

7.  The Ordering Party shall deposit 20% of the fees of the test (of the total amount of the invoice) in an Asclepion      Genetics bank account before the elaboration of the test.

8.  Upon confirmation of point 7 and immediately after DNA receipt, Asclepion shall initiate testing.

9.  Asclepion Genetics shall inform the Ordering Party immediately after the completion of the test.

10.  The Ordering Party shall deposit the rest of the amount of the Asclepion Genetics invoice for the test in the same        bank account as for point 7.